A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980756



Internal ID12625247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:242797..499586hg38UCSC Ensembl
Innerchr9:242797..499586hg19UCSC Ensembl
Innerchr9:232797..489586hg18UCSC Ensembl
Innerchr9:232797..489586hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38256790
hg19256790
hg18256790
hg17256790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752306
Supporting Variants
SamplesBEC_131
Known GenesDOCK8, KANK1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980756
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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